acquired metabolic disease Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A disease of metabolism that has _material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption. (Human Disease Ontology, DOID_0060158)
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Genes

140 genes involed in the disease acquired metabolic disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ADAM10 ADAM metallopeptidase domain 10
ADIPOQ adiponectin, C1Q and collagen domain containing
ADRB3 adrenoceptor beta 3
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AGRP agouti related neuropeptide
AKT2 v-akt murine thymoma viral oncogene homolog 2
ALMS1 Alstrom syndrome protein 1
APOA1 apolipoprotein A-I
APOE apolipoprotein E
APP amyloid beta (A4) precursor protein
ARL6 ADP-ribosylation factor-like 6
B2M beta-2-microglobulin
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
BLK BLK proto-oncogene, Src family tyrosine kinase
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CAPN10 calpain 10
CARTPT CART prepropeptide
CCDC28B coiled-coil domain containing 28B
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CD38 CD38 molecule
CDKAL1 CDK5 regulatory subunit associated protein 1-like 1
CEL carboxyl ester lipase
CEP19 centrosomal protein 19kDa
CEP290 centrosomal protein 290kDa
CISD2 CDGSH iron sulfur domain 2
CLCN5 chloride channel, voltage-sensitive 5
CLPS colipase, pancreatic
CP ceruloplasmin (ferroxidase)
CST3 cystatin C
CTLA4 cytotoxic T-lymphocyte-associated protein 4
DMP1 dentin matrix acidic phosphoprotein 1
DYRK1B dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2
FGA fibrinogen alpha chain
FGF23 fibroblast growth factor 23
FOXP3 forkhead box P3
FTO fat mass and obesity associated
GCGR glucagon receptor
GCK glucokinase (hexokinase 4)
GSK3A glycogen synthase kinase 3 alpha
GSK3B glycogen synthase kinase 3 beta
GSN gelsolin
GYS1 glycogen synthase 1 (muscle)
HDAC8 histone deacetylase 8
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HNF1A HNF1 homeobox A
HNF1B HNF1 homeobox B
HNF4A hepatocyte nuclear factor 4, alpha
IER3IP1 immediate early response 3 interacting protein 1
IFIH1 interferon induced with helicase C domain 1
IFT27 intraflagellar transport 27
IL2RA interleukin 2 receptor, alpha
IL31RA interleukin 31 receptor A
IL6 interleukin 6
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INPPL1 inositol polyphosphate phosphatase-like 1
INS insulin
INSR insulin receptor
IRS1 insulin receptor substrate 1
ITM2B integral membrane protein 2B
ITPR3 inositol 1,4,5-trisphosphate receptor, type 3
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KIF7 kinesin family member 7
KLF11 Kruppel-like factor 11
LEP leptin
LEPR leptin receptor
LYZ lysozyme
LZTFL1 leucine zipper transcription factor-like 1
MAPK8IP1 mitogen-activated protein kinase 8 interacting protein 1
MC4R melanocortin 4 receptor
MCF2L2 MCF.2 cell line derived transforming sequence-like 2
MEFV Mediterranean fever
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MRAP2 melanocortin 2 receptor accessory protein 2
NEUROD1 neuronal differentiation 1
NLRP3 NLR family, pyrin domain containing 3
NR0B2 nuclear receptor subfamily 0, group B, member 2
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
OAS1 2'-5'-oligoadenylate synthetase 1, 40/46kDa
OSMR oncostatin M receptor
PAX4 paired box 4
PCSK1 proprotein convertase subtilisin/kexin type 1
PDX1 pancreatic and duodenal homeobox 1
PHEX phosphate regulating endopeptidase homolog, X-linked
PLD3 phospholipase D family, member 3
PNPLA3 patatin-like phospholipase domain containing 3
POMC proopiomelanocortin
PPARG peroxisome proliferator-activated receptor gamma
PPP1R3A protein phosphatase 1, regulatory subunit 3A
PPP5C protein phosphatase 5, catalytic subunit
PRNP prion protein
PSEN1 presenilin 1
PSEN2 presenilin 2
PTF1A pancreas specific transcription factor, 1a
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTRF polymerase I and transcript release factor
RETN resistin
RFX6 regulatory factor X, 6
SAA1 serum amyloid A1
SAA2 serum amyloid A2
SH2B3 SH2B adaptor protein 3
SLC16A11 solute carrier family 16, member 11
SLC16A13 solute carrier family 16, member 13
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4
SLC30A8 solute carrier family 30 (zinc transporter), member 8
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC6A14 solute carrier family 6 (amino acid transporter), member 14
SORL1 sortilin-related receptor, L(DLR class) A repeats containing
SUMO4 small ubiquitin-like modifier 4
TACSTD2 tumor-associated calcium signal transducer 2
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box)
TGFBI transforming growth factor, beta-induced, 68kDa
TMEM67 transmembrane protein 67
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TRIM32 tripartite motif containing 32
TTC21B tetratricopeptide repeat domain 21B
TTC8 tetratricopeptide repeat domain 8
TTR transthyretin
TUB tubby bipartite transcription factor
UCP1 uncoupling protein 1 (mitochondrial, proton carrier)
UCP3 uncoupling protein 3 (mitochondrial, proton carrier)
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WDPCP WD repeat containing planar cell polarity effector
WFS1 Wolfram syndrome 1 (wolframin)
ZFP57 ZFP57 zinc finger protein